[1]
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NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS ARG-858; ARG-865 AND GLU-925.
PubMed=3110773 [NCBI, ExPASy, EBI, Israel, Japan]
Jenny R.J.,
Pittman D.D.,
Toole J.J.,
Kriz R.W.,
Aldape R.A.,
Hewick R.M.,
Kaufman R.J.,
Mann K.G.;
"Complete cDNA and derived amino acid sequence of human factor V.";
Proc. Natl. Acad. Sci. U.S.A. 84:4846-4850(1987).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT MET-1764.
DOI=10.1021/bi00130a007; PubMed=1567832 [NCBI, ExPASy, EBI, Israel, Japan]
Cripe L.D.,
Moore K.D.,
Kane W.H.;
"Structure of the gene for human coagulation factor V.";
Biochemistry 31:3777-3785(1992).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS SER-15; HIS-107; THR-413; LYS-513; GLN-534; SER-809; THR-817; ARG-858; ARG-865; SER-915; GLU-925; SER-969; LEU-980; GLN-1146; ILE-1285; SER-1404; ALA-1530; MET-1764 AND THR-2148.
SeattleSNPs program for genomic applications;
Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
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[4]
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NUCLEOTIDE SEQUENCE [MRNA] OF 1-1600, AND VARIANTS ARG-858; ARG-865; GLU-925 AND ILE-1285.
DOI=10.1021/bi00394a033; PubMed=2827731 [NCBI, ExPASy, EBI, Israel, Japan]
Kane W.H.,
Ichinose A.,
Hagen F.S.,
Davie E.W.;
"Cloning of cDNAs coding for the heavy chain region and connecting region of human factor V, a blood coagulation factor with four types of internal repeats.";
Biochemistry 26:6508-6514(1987).
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[5]
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NUCLEOTIDE SEQUENCE [MRNA] OF 1188-1215 AND 1315-2224.
PubMed=3092220 [NCBI, ExPASy, EBI, Israel, Japan]
Kane W.H.,
Davie E.W.;
"Cloning of a cDNA coding for human factor V, a blood coagulation factor homologous to factor VIII and ceruloplasmin.";
Proc. Natl. Acad. Sci. U.S.A. 83:6800-6804(1986).
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[6]
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PARTIAL NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Fibroblast;
PubMed=8454869 [NCBI, ExPASy, EBI, Israel, Japan]
Shen N.L.L.,
Fan S.-T.,
Pyati J.,
Graff R.,
Lapolla R.J.,
Edgington T.S.;
"The serine protease cofactor factor V is synthesized by lymphocytes.";
J. Immunol. 150:2992-3001(1993).
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[7]
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COPPER BINDING.
PubMed=6490642 [NCBI, ExPASy, EBI, Israel, Japan]
Mann K.G.,
Lawler C.M.,
Vehar G.A.,
Church W.R.;
"Coagulation Factor V contains copper ion.";
J. Biol. Chem. 259:12949-12951(1984).
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[8]
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SULFATION.
DOI=10.1021/bi00188a026; PubMed=8204629 [NCBI, ExPASy, EBI, Israel, Japan]
Pittman D.D.,
Tomkinson K.N.,
Michnick D.,
Selighsohn U.,
Kaufman R.J.;
"Posttranslational sulfation of factor V is required for efficient thrombin cleavage and activation and for full procoagulant activity.";
Biochemistry 33:6952-6959(1994).
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[9]
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SULFATION.
PubMed=2168225 [NCBI, ExPASy, EBI, Israel, Japan]
Hortin G.L.;
"Sulfation of tyrosine residues in coagulation factor V.";
Blood 76:946-952(1990).
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[10]
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GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-297; ASN-460; ASN-821; ASN-977 AND ASN-1559, AND MASS SPECTROMETRY.
TISSUE=Plasma;
DOI=10.1021/pr0502065; PubMed=16335952 [NCBI, ExPASy, EBI, Israel, Japan]
Liu T.,
Qian W.-J.,
Gritsenko M.A.,
Camp D.G. II,
Monroe M.E.,
Moore R.J.,
Smith R.D.;
"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.";
J. Proteome Res. 4:2070-2080(2005).
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[11]
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GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-297, AND MASS SPECTROMETRY.
TISSUE=Platelet;
DOI=10.1074/mcp.M500324-MCP200; PubMed=16263699 [NCBI, ExPASy, EBI, Israel, Japan]
Lewandrowski U.,
Moebius J.,
Walter U.,
Sickmann A.;
"Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach.";
Mol. Cell. Proteomics 5:226-233(2006).
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[12]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1150, AND MASS SPECTROMETRY.
TISSUE=Platelet;
DOI=10.1021/pr0704130; PubMed=18088087 [NCBI, ExPASy, EBI, Israel, Japan]
Zahedi R.P.,
Lewandrowski U.,
Wiesner J.,
Wortelkamp S.,
Moebius J.,
Schuetz C.,
Walter U.,
Gambaryan S.,
Sickmann A.;
"Phosphoproteome of resting human platelets.";
J. Proteome Res. 7:526-534(2008).
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[13]
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X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF 2065-2224.
DOI=10.1038/46594; PubMed=10586886 [NCBI, ExPASy, EBI, Israel, Japan]
Macedo-Ribeiro S.,
Bode W.,
Huber R.,
Quinn-Allen M.A.,
Kim S.W.,
Ortel T.L.,
Bourenkov G.P.,
Bartunik H.D.,
Stubbs M.T.,
Kane W.H.,
Fuentes-Prior P.;
"Crystal structures of the membrane-binding C2 domain of human coagulation factor V.";
Nature 402:434-439(1999).
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[14]
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VARIANT MET-1764.
PubMed=7874144 [NCBI, ExPASy, EBI, Israel, Japan]
Bayston T.A.,
Ireland H.,
Olds R.J.,
Thein S.L.,
Lane D.A.;
"A polymorphism in the human coagulation factor V gene.";
Hum. Mol. Genet. 3:2085-2085(1994).
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[15]
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VARIANT GLN-534.
DOI=10.1038/369064a0; PubMed=8164741 [NCBI, ExPASy, EBI, Israel, Japan]
Bertina R.M.,
Koeleman B.P.C.,
Koster T.,
Rosendaal F.R.,
Dirven R.J.,
de Ronde H.,
van der Velden P.A.,
Reitsma P.H.;
"Mutation in blood coagulation factor V associated with resistance to activated protein C.";
Nature 369:64-67(1994).
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[16]
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VARIANTS ILE-1285 AND ARG-1327.
PubMed=8713778 [NCBI, ExPASy, EBI, Israel, Japan]
Lunghi B.,
Iacoviello L.,
Gemmati D.,
Dilasio M.G.,
Castoldi E.,
Pinotti M.,
Castaman G.,
Redaelli R.,
Mariani G.,
Marchetti G.,
Bernardi F.;
"Detection of new polymorphic markers in the factor V gene: association with factor V levels in plasma.";
Thromb. Haemost. 75:45-48(1996).
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[17]
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ASSOCIATION OF VARIANT GLN-534 WITH SUSCEPTIBILITY TO BUDD-CHIARI SYNDROME.
PubMed=9245936 [NCBI, ExPASy, EBI, Israel, Japan]
Mahmoud A.E.A.,
Elias E.,
Beauchamp N.,
Wilde J.T.;
"Prevalence of the factor V Leiden mutation in hepatic and portal vein thrombosis.";
Gut 40:798-800(1997).
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[18]
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VARIANT THROMBOPHILIA GLY-334, AND VARIANT LYS-513.
PubMed=9454741 [NCBI, ExPASy, EBI, Israel, Japan]
Chan W.P.,
Lee C.K.,
Kwong Y.L.,
Lam C.K.,
Liang R.;
"A novel mutation of Arg306 of factor V gene in Hong Kong Chinese.";
Blood 91:1135-1139(1998).
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[19]
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VARIANT APCR THR-334.
PubMed=9454742 [NCBI, ExPASy, EBI, Israel, Japan]
Williamson D.,
Brown K.,
Luddington R.,
Baglin C.,
Baglin T.;
"Factor V Cambridge: a new mutation (Arg306-to-Thr) associated with resistance to activated protein C.";
Blood 91:1140-1144(1998).
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[20]
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VARIANT THROMBOPHILIA GLY-334.
PubMed=9746807 [NCBI, ExPASy, EBI, Israel, Japan]
Liang R.,
Lee C.K.,
Wat M.S.,
Kwong Y.L.,
Lam C.K.,
Liu H.W.;
"Clinical significance of Arg306 mutations of factor V gene.";
Blood 92:2599-2600(1998).
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[21]
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VARIANTS HIS-107; THR-413; LYS-513; GLN-534; SER-809; THR-817; ARG-858; ARG-865; GLU-925; GLN-1146; ALA-1530; SER-1685; VAL-1749; MET-1764; ILE-1820 AND GLY-2222.
DOI=10.1038/10290; PubMed=10391209 [NCBI, ExPASy, EBI, Israel, Japan]
Cargill M.,
Altshuler D.,
Ireland J.,
Sklar P.,
Ardlie K.,
Patil N.,
Shaw N.,
Lane C.R.,
Lim E.P.,
Kalyanaraman N.,
Nemesh J.,
Ziaugra L.,
Friedland L.,
Rolfe A.,
Warrington J.,
Lipshutz R.,
Daley G.Q.,
Lander E.S.;
"Characterization of single-nucleotide polymorphisms in coding regions of human genes.";
Nat. Genet. 22:231-238(1999).
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[22]
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ERRATUM.
Cargill M.,
Altshuler D.,
Ireland J.,
Sklar P.,
Ardlie K.,
Patil N.,
Shaw N.,
Lane C.R.,
Lim E.P.,
Kalyanaraman N.,
Nemesh J.,
Ziaugra L.,
Friedland L.,
Rolfe A.,
Warrington J.,
Lipshutz R.,
Daley G.Q.,
Lander E.S.;
Nat. Genet. 23:373-373(1999).
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[23]
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VARIANT FACTOR V DEFICIENCY CYS-1730, AND VARIANTS GLN-534 AND ARG-1327.
PubMed=10942390 [NCBI, ExPASy, EBI, Israel, Japan]
Castoldi E.,
Simioni P.,
Kalafatis M.,
Lunghi B.,
Tormene D.,
Girelli D.,
Girolami A.,
Bernardi F.;
"Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a thrombophilic family.";
Blood 96:1443-1448(2000).
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[24]
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VARIANTS APCR ARG-613 AND CYS-1730.
DOI=10.1182/blood.V98.2.358; PubMed=11435304 [NCBI, ExPASy, EBI, Israel, Japan]
van Wijk R.,
Nieuwenhuis K.,
van den Berg M.,
Huizinga E.G.,
van der Meijden B.B.,
Kraaijenhagen R.J.,
van Solinge W.W.;
"Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency.";
Blood 98:358-367(2001).
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[25]
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VARIANT APCR HIS-2102.
PubMed=11858490 [NCBI, ExPASy, EBI, Israel, Japan]
Schrijver I.,
Houissa-Kastally R.,
Jones C.D.,
Garcia K.C.,
Zehnder J.L.;
"Novel factor V C2-domain mutation (R2074H) in two families with factor V deficiency and bleeding.";
Thromb. Haemost. 87:294-299(2002).
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[26]
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VARIANT FACTOR V DEFICIENCY CYS-2102, AND CHARACTERIZATION OF VARIANT FACTOR V DEFICIENCY CYS-2102.
DOI=10.1182/blood-2002-06-1928; PubMed=12393490 [NCBI, ExPASy, EBI, Israel, Japan]
Duga S.,
Montefusco M.C.,
Asselta R.,
Malcovati M.,
Peyvandi F.,
Santagostino E.,
Mannucci P.M.,
Tenchini M.L.;
"Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein.";
Blood 101:173-177(2003).
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[27]
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VARIANT THROMBOPHILIA THR-387.
DOI=10.1046/j.1365-2141.2003.04624.x; PubMed=14617013 [NCBI, ExPASy, EBI, Israel, Japan]
Mumford A.D.,
McVey J.H.,
Morse C.V.,
Gomez K.,
Steen M.,
Norstrom E.A.,
Tuddenham E.G.D.,
Dahlback B.,
Bolton-Maggs P.H.B.;
"Factor V I359T: a novel mutation associated with thrombosis and resistance to activated protein C.";
Br. J. Haematol. 123:496-501(2003).
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[28]
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ASSOCIATION OF VARIANT GLN-534 WITH SUSCEPTIBILITY TO ISCHEMIC STROKE.
DOI=10.1001/archneur.61.11.1652; PubMed=15534175 [NCBI, ExPASy, EBI, Israel, Japan]
Casas J.P.,
Hingorani A.D.,
Bautista L.E.,
Sharma P.;
"Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls.";
Arch. Neurol. 61:1652-1661(2004).
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[29]
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CHARACTERIZATION OF VARIANT THROMBOPHILIA THR-387.
DOI=10.1182/blood-2003-06-2092; PubMed=14695241 [NCBI, ExPASy, EBI, Israel, Japan]
Steen M.,
Norstroem E.A.,
Tholander A.-L.,
Bolton-Maggs P.H.B.,
Mumford A.,
McVey J.H.,
Tuddenham E.G.D.,
Dahlbaeck B.;
"Functional characterization of factor V-Ile359Thr: a novel mutation associated with thrombosis.";
Blood 103:3381-3387(2004).
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[30]
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VARIANT [LARGE SCALE ANALYSIS] ALA-775.
DOI=10.1126/science.1133427; PubMed=16959974 [NCBI, ExPASy, EBI, Israel, Japan]
Sjoeblom T.,
Jones S.,
Wood L.D.,
Parsons D.W.,
Lin J.,
Barber T.D.,
Mandelker D.,
Leary R.J.,
Ptak J.,
Silliman N.,
Szabo S.,
Buckhaults P.,
Farrell C.,
Meeh P.,
Markowitz S.D.,
Willis J.,
Dawson D.,
Willson J.K.V.,
Gazdar A.F., ![]()
Hartigan J.,
Wu L.,
Liu C.,
Parmigiani G.,
Park B.H.,
Bachman K.E.,
Papadopoulos N.,
Vogelstein B.,
Kinzler K.W.,
Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal cancers.";
Science 314:268-274(2006).
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